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References OMIM Gene GeneReviews HGMD HGNC
last update : 27/06/2006
Symbol EBSLA
Location 6p24.3
Name epidermolysis bullosa simplex, lethal acantholytic
Corresponding gene DSP
Main clinical features
  • severe fragility of skin and mucous membranes begining during delivery, large sheets of skin were detached, leaving superficial, not bleeding, dull, intense red wound surfaces
  • loss of profuse amounts of fluid from the extensive skin erosions, accompanied by universal alopecia and nail loss, and 3 triangular neonatal teeth ; death occurred at 10 days of age due to immense transcutaneous fluid loss
  • at histopathology of the skin, suprabasal clefting, leaving basal cells attached to the blister floor like a row of tombstones and at electron microscopy, disconnection of keratin intermediate filaments from desmosomes
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein truncated C-terminal tail
    various types     nonsense, del